Large-scale Whole-Exome Sequencing Defines the Protein-Coding Architecture of Retinal Structure, Visual Function, and Major Blinding Diseases.

ABSTRACT: The retina is an accessible extension of the central nervous system, yet the protein-coding architecture linking retinal structure, visual function, and major blinding diseases remains poorly defined. Here, using large-scale whole-exome sequencing data from 356,982 UK Biobank participants, exome-wide gene-based tests of rare coding variants and single-variant analyses of common coding variants are performed. A total of 22 significant rare-variant gene-based associations involving 16 genes are identified, including 12 novel genes, 10 of which are independently supported in the All of Us cohort (N = 245,388). Single-variant analyses identify 243 independent common coding variants in 126 genes, including 24 novel genes. CFI, C3, and RIOX1 show associations across retinal structure, visual fun

SUBMITTER: Li J 

PROVIDER: S-EPMC13397823 | biostudies-literature | 2026 Oct

REPOSITORIES: biostudies-literature